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Spinocerebellar ataxia type 30
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.
ORPHA:211017Classification level: Disorder
Spinocerebellar ataxia type 30 (SCA30) has only been described in 6 patients from one Australian family to date.
The age of onset ranges from 45 to 76 years with a mean age of onset of 52 years. It presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rarer manifestations include gaze-evoked nystagmus and dystonia. Head MRI shows atrophy of cerebellum with preservation of nodulus/uvula and brainstem.
The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1.
Diagnosis is based on the characteristic clinical findings and family history of SCA30.
Differential diagnosis includes other types of autosomal dominant cerebellar ataxia.
Antenatal diagnosis is not possible, since a causative gene has not yet been identified for SCA30.
SCA30 is inherited in an autosomal dominant manner and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
There is no cure for SCA30 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Dysphagia should be monitored to decrease the risk of aspiration pneumonia. In those with vertigo, vestibular suppressants may be beneficial. Annual neurological examinations are recommended to monitor disease progression.
Disease progression is very slow, but precise prognosis is unknown.
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